Disease: Polycystic Ovary Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41 98
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs2241766
ADIPOQ ; ADIPOQ-AS1
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs1232898090
PPARA
0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs17782313 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 34
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 29
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 23
rs12970134 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 13
rs628031
SLC22A1
0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 8
rs683369
SLC22A1
0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 7
rs1003887
INSL3
0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 3
rs4629571
CERT1 ; HMGCR
0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02 2